Associated Papers
Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.
Mittal S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2026
Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.
Zhu M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2026
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.
Théberge ET et al.
American Journal of Medical Genetics. Part A, 2026
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.
Brand MR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.
Dannheim K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease.
Pindon A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.
Sim H et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Hotspots of human mutation point to clonal expansions in spermatogonia.
Seplyarskiy V et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.
Elias AF
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Thick skin and thicker arteries: case report on a rare cause of hypertension.
Mathew G et al.
Pediatric Nephrology (berlin, Germany), 2025
Research Review of Myhre Syndrome.
Brand MR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2025
Cracking rare disorders: a new minimally invasive RNA-seq protocol.
De Cock L et al.
Npj Genomic Medicine, 2025
SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.
Spineli-Silva S et al.
American Journal of Medical Genetics. Part A, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Gain-of-function variants in SMAD4 compromise respiratory epithelial function.
Lindsay ME et al.
The Journal of Allergy and Clinical Immunology, 2025
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE et al.
American Journal of Medical Genetics. Part A, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Wood KA et al.
American Journal of Human Genetics, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E et al.
European Journal of Human Genetics : Ejhg, 2024
Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.
Jury J et al.
Prenatal Diagnosis, 2024
Middle Ear Fibrosis Contributes to Hearing Loss in Patients With Myhre Syndrome.
Tayara A et al.
Ear, Nose, & Throat Journal, 2024
Corrigendum to "Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome".
Unknown Author
American Journal of Medical Genetics. Part A, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.
Zhang J et al.
Nature Medicine, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF et al.
Molecular Syndromology, 2023
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).
Demir Ş et al.
Molecular Syndromology, 2023
A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.
Kananazawa Y et al.
Japanese Journal of Clinical Oncology, 2023
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Yang K et al.
Molecular Genetics & Genomic Medicine, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Natural history of Myhre syndrome.
Yang DD et al.
Orphanet Journal of Rare Diseases, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Cappuccio G et al.
American Journal of Medical Genetics. Part A, 2022
The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.
Yang Y et al.
Bmc Cancer, 2022
Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease.
Bhave SA et al.
Cardiogenetics, 2021
SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.
Kandhaya-Pillai R et al.
Geroscience, 2021
Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.
Grzywa TM et al.
International Journal of Molecular Sciences, 2021
Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.
Takayanagi D et al.
Cancers, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
Consequences of Mutations and Abnormal Expression of SMAD4 in Tumors and T Cells.
Wan R et al.
Oncotargets and Therapy, 2021
De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.
Chen S et al.
Molecular Autism, 2020
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Olkinuora A et al.
Cancers, 2020
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Lin AE et al.
American Journal of Medical Genetics. Part A, 2020
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity.
Li H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020